Incidental Mutation 'IGL02817:Drc3'
ID |
360844 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Drc3
|
Ensembl Gene |
ENSMUSG00000056598 |
Gene Name |
dynein regulatory complex subunit 3 |
Synonyms |
Lrrc48, m6Bei, 4930449E07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02817
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
60244155-60285167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60275062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 341
(E341G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108722]
[ENSMUST00000108723]
|
AlphaFold |
Q9D5E4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108722
AA Change: E341G
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104362 Gene: ENSMUSG00000056598 AA Change: E341G
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
LRR
|
86 |
106 |
9.24e1 |
SMART |
LRR
|
108 |
129 |
1.71e1 |
SMART |
LRR
|
130 |
153 |
1.49e1 |
SMART |
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108723
AA Change: E341G
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104363 Gene: ENSMUSG00000056598 AA Change: E341G
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
LRR
|
86 |
106 |
9.24e1 |
SMART |
LRR
|
108 |
129 |
1.71e1 |
SMART |
LRR
|
130 |
153 |
1.49e1 |
SMART |
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
Ash1l |
C |
A |
3: 88,892,108 (GRCm39) |
P1329H |
probably damaging |
Het |
Bpifb3 |
T |
C |
2: 153,761,566 (GRCm39) |
V5A |
unknown |
Het |
Cep350 |
A |
G |
1: 155,804,588 (GRCm39) |
S832P |
probably damaging |
Het |
Chd1 |
A |
T |
17: 15,969,762 (GRCm39) |
H947L |
possibly damaging |
Het |
Clec4b1 |
A |
T |
6: 123,045,444 (GRCm39) |
H88L |
possibly damaging |
Het |
Col4a1 |
A |
G |
8: 11,270,259 (GRCm39) |
L859P |
probably damaging |
Het |
Cyp2f2 |
T |
A |
7: 26,828,740 (GRCm39) |
N203K |
probably damaging |
Het |
Dgka |
G |
A |
10: 128,566,097 (GRCm39) |
T351I |
probably benign |
Het |
Dmc1 |
G |
A |
15: 79,472,964 (GRCm39) |
T161I |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,887,269 (GRCm39) |
N688D |
probably benign |
Het |
Dpy19l3 |
A |
G |
7: 35,392,233 (GRCm39) |
L653P |
probably damaging |
Het |
Fcrl5 |
T |
G |
3: 87,343,220 (GRCm39) |
V10G |
probably benign |
Het |
Fgfr4 |
T |
C |
13: 55,304,481 (GRCm39) |
|
probably null |
Het |
Gli2 |
T |
C |
1: 118,764,101 (GRCm39) |
H1350R |
possibly damaging |
Het |
Gm3248 |
A |
G |
14: 5,945,825 (GRCm38) |
S30P |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,534,235 (GRCm39) |
N349S |
probably benign |
Het |
Ifnar2 |
G |
T |
16: 91,184,880 (GRCm39) |
K90N |
probably benign |
Het |
Kcp |
A |
T |
6: 29,496,968 (GRCm39) |
I547N |
probably damaging |
Het |
L3mbtl4 |
A |
T |
17: 68,937,249 (GRCm39) |
E423D |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,453,130 (GRCm39) |
L341P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 118,000,251 (GRCm39) |
Q618R |
possibly damaging |
Het |
Medag |
A |
T |
5: 149,350,503 (GRCm39) |
R51* |
probably null |
Het |
Myo1f |
G |
A |
17: 33,823,532 (GRCm39) |
R1020K |
probably benign |
Het |
Myrf |
T |
C |
19: 10,202,816 (GRCm39) |
N153D |
probably benign |
Het |
Naf1 |
T |
C |
8: 67,336,177 (GRCm39) |
I368T |
probably damaging |
Het |
Nalf1 |
A |
T |
8: 9,257,994 (GRCm39) |
C385S |
probably damaging |
Het |
Ncapd2 |
A |
G |
6: 125,147,877 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
T |
A |
2: 151,342,651 (GRCm39) |
S74T |
probably damaging |
Het |
Or2a51 |
A |
T |
6: 43,178,993 (GRCm39) |
R138S |
probably benign |
Het |
Or6c68 |
A |
G |
10: 129,157,764 (GRCm39) |
T91A |
probably benign |
Het |
Or8h7 |
T |
C |
2: 86,720,937 (GRCm39) |
N194S |
probably benign |
Het |
Ptgfrn |
T |
A |
3: 100,968,068 (GRCm39) |
E508D |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,674,968 (GRCm39) |
|
probably null |
Het |
Snx27 |
A |
G |
3: 94,410,770 (GRCm39) |
L460P |
probably damaging |
Het |
Sp4 |
G |
T |
12: 118,263,287 (GRCm39) |
T253K |
probably damaging |
Het |
Trio |
T |
C |
15: 27,902,967 (GRCm39) |
I165V |
probably benign |
Het |
Txnl4b |
A |
G |
8: 110,299,478 (GRCm39) |
Y146C |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,518 (GRCm39) |
M17T |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,993,406 (GRCm39) |
I567V |
probably damaging |
Het |
|
Other mutations in Drc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01319:Drc3
|
APN |
11 |
60,255,788 (GRCm39) |
missense |
probably null |
0.70 |
IGL01457:Drc3
|
APN |
11 |
60,249,475 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02329:Drc3
|
APN |
11 |
60,261,404 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02576:Drc3
|
APN |
11 |
60,261,377 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02610:Drc3
|
APN |
11 |
60,261,419 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03380:Drc3
|
APN |
11 |
60,268,731 (GRCm39) |
missense |
probably benign |
0.01 |
R0020:Drc3
|
UTSW |
11 |
60,261,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R1221:Drc3
|
UTSW |
11 |
60,275,052 (GRCm39) |
missense |
probably benign |
|
R1394:Drc3
|
UTSW |
11 |
60,284,545 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1483:Drc3
|
UTSW |
11 |
60,279,715 (GRCm39) |
missense |
probably benign |
0.00 |
R2093:Drc3
|
UTSW |
11 |
60,261,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R2151:Drc3
|
UTSW |
11 |
60,265,983 (GRCm39) |
missense |
probably benign |
0.15 |
R4631:Drc3
|
UTSW |
11 |
60,255,734 (GRCm39) |
missense |
probably benign |
0.02 |
R4796:Drc3
|
UTSW |
11 |
60,254,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Drc3
|
UTSW |
11 |
60,261,361 (GRCm39) |
missense |
probably benign |
0.00 |
R4842:Drc3
|
UTSW |
11 |
60,261,361 (GRCm39) |
missense |
probably benign |
0.00 |
R5739:Drc3
|
UTSW |
11 |
60,265,956 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5766:Drc3
|
UTSW |
11 |
60,284,647 (GRCm39) |
missense |
probably benign |
0.18 |
R6143:Drc3
|
UTSW |
11 |
60,261,406 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6298:Drc3
|
UTSW |
11 |
60,284,596 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6558:Drc3
|
UTSW |
11 |
60,255,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R6611:Drc3
|
UTSW |
11 |
60,255,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R6938:Drc3
|
UTSW |
11 |
60,284,949 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7013:Drc3
|
UTSW |
11 |
60,278,129 (GRCm39) |
missense |
probably benign |
0.00 |
R7108:Drc3
|
UTSW |
11 |
60,261,380 (GRCm39) |
missense |
probably benign |
0.13 |
R7640:Drc3
|
UTSW |
11 |
60,279,730 (GRCm39) |
missense |
probably benign |
|
R7713:Drc3
|
UTSW |
11 |
60,261,386 (GRCm39) |
missense |
probably benign |
|
R9188:Drc3
|
UTSW |
11 |
60,249,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9500:Drc3
|
UTSW |
11 |
60,261,334 (GRCm39) |
missense |
probably benign |
0.19 |
|
Posted On |
2015-12-18 |